Capicua: Proteins and Enzymes

CIC, a human homolog of Drosophila capicua, encodes a high mobility group box transcription factor and is fused to a double homeodomain gene DUX4 as a result of a recurrent chromosomal translocation. It is involved in epidermal growth factor receptor (EGFR) signaling, developmental patterning, and cell fate. In humans, CIC may be involved in granule cell lineage, cerebellar development, and medulloblastoma tumorigenesis. Recent evidence indicates that CIC is involved in Spinocerebellar Ataxia Type 1 (SCA-1) where it interacts directly with the product of the SCA-1 gene Ataxin-1.